Canonical Allele Identifier: CA414841929

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868701T>A (hg19) ; chrY:g.19706815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706815T>A , CM000686.2:g.19706815T>A	GRCh38
NC_000024.9:g.21868701T>A , CM000686.1:g.21868701T>A	GRCh37
NC_000024.8:g.20328089T>A	NCBI36
NG_032920.1:g.43125A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4048A>T MANE Select	ENSP00000322408.4:p.Met1350Leu
ENST00000317961.8:c.4048A>T	ENSP00000322408.4:p.Met1350Leu
ENST00000382806.6:c.3877A>T	ENSP00000372256.2:p.Met1293Leu
ENST00000440077.5:c.3925A>T	ENSP00000398543.1:p.Met1309Leu
ENST00000469599.6:n.2646A>T
ENST00000492117.1:n.3940A>T
ENST00000541639.5:c.4141A>T	ENSP00000444293.1:p.Met1381Leu
NM_001146705.1:c.4141A>T	NP_001140177.1:p.Met1381Leu
NM_001146706.1:c.3877A>T	NP_001140178.1:p.Met1293Leu
NM_004653.4:c.4048A>T	NP_004644.2:p.Met1350Leu
XM_005262560.1:c.3913A>T	XP_005262617.1:p.Met1305Leu
XM_005262561.1:c.3817A>T	XP_005262618.1:p.Met1273Leu
XM_011531468.1:c.3970A>T	XP_011529770.1:p.Met1324Leu
XR_244571.2:n.4336A>T
XR_430568.2:n.4670A>T
XM_005262560.3:c.3913A>T	XP_005262617.1:p.Met1305Leu
XM_005262561.3:c.3817A>T	XP_005262618.1:p.Met1273Leu
XM_011531468.3:c.3970A>T	XP_011529770.1:p.Met1324Leu
XM_024452495.1:c.2038A>T	XP_024308263.1:p.Met680Leu
XM_024452496.1:c.1804A>T	XP_024308264.1:p.Met602Leu
XR_001756009.2:n.4786A>T
XR_001756010.2:n.4786A>T
XR_001756011.2:n.4651A>T
XR_001756012.2:n.4799A>T
XR_001756013.2:n.4117A>T
XR_002958832.1:n.4218A>T
XR_002958834.1:n.4442A>T
XR_002958835.1:n.4325A>T
XR_002958836.1:n.5008A>T
XR_002958837.1:n.4815A>T
XR_244571.4:n.4335A>T
XR_430568.4:n.4669A>T
NM_001146706.2:c.3877A>T	NP_001140178.1:p.Met1293Leu
NM_004653.5:c.4048A>T MANE Select	NP_004644.2:p.Met1350Leu
NM_001146705.2:c.4141A>T	NP_001140177.1:p.Met1381Leu